Variant (rsID / SNP)

rs118204001

rs118204001 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to MAT1A. Location: chromosome 10, position 82,034,395. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

MAT1ALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:82034395
Cytoband: 10q22.3
HGVS: NM_000429.3(MAT1A):c.966T>G (p.Ile322Met)
Allele change: Missense_I322M

Associated conditions / phenotypes

Hepatic methionine adenosyltransferase deficiency

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.